Understanding the genetic causes of ASNA1-related heart disease
Official title: Molecular basis of ASNA1 cardiomyopathy
Funded at University of California, San Diego · NIH-11045783 · Data updated 2026-11-12
This study is looking at how changes in a specific gene called ASNA1 can cause dilated cardiomyopathy, a heart condition that can affect people early in life, and it aims to find out more about how these changes impact heart cells to help improve diagnosis and treatment for those at risk.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Diego NIH-funded |
| Lab location | 1 site (La Jolla, United States) |
| Project start | April 1, 2024 |
| Project end | March 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $491,573 |
| NIH project number | 5R01HL170002-02 |
| Project ID | NIH-11045783 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with ASNA1 gene mutations, particularly those who have experienced dilated cardiomyopathy.
✕Less likely to help
Patients without ASNA1 mutations or those with unrelated heart conditions may not benefit from this research.
What this research studies
This research investigates how specific genetic mutations in the ASNA1 gene lead to dilated cardiomyopathy, a serious heart condition. By using advanced mouse models and human stem cells, the team aims to uncover the molecular mechanisms behind these mutations and their effects on heart muscle cells. Patients with certain ASNA1 mutations are at risk of developing heart problems early in life, and this research seeks to provide insights that could lead to better diagnosis and treatment options.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and management of heart disease caused by ASNA1 mutations, potentially saving lives.
How similar studies have gone: Previous research has shown promising results in understanding genetic heart diseases, suggesting that this approach could yield valuable insights.
Where this research is happening
-
University of California, San Diego
La Jolla, United States Active
Researchers
- Principal investigator: Chen, Ju — University of California, San Diego
- Study coordinator: Chen, Ju
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About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.